BRESHECK syndromeAn X-linked MIM 300404 condition defined by the BRESHECK acronym:
Retardation—mental and growth;
Ear deformity and deafness/eye hypoplasia;
It is similar to BRESEK syndrome but includes Hirschsprung’s disease and Cleft palate/Cryptorchidism. Because both are caused by a mutation in MBTPS2, separation of the two is arbitrary.